Neuronal ceroid lipofuscinosis 1

A condition associated with mutation(s) in the PPT1 gene, encoding palmitoyl-protein thioesterase 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.

Also known as: CLN1, CLN1 disease, CLN1 variable age at onset, PPT1 neuronal ceroid lipofuscinosis, ceroid lipofuscinosis neuronal 1, ceroid lipofuscinosis, neuronal, 1, ceroid lipofuscinosis, neuronal, 1, variable Age at onset, ceroid lipofuscinosis, neuronal, type 1

2 clinical trials for this condition and its sub-types, 1 tagged with Neuronal ceroid lipofuscinosis 1 itself.